CLCN6-related Neurodevelopmental Syndrome

Sponsored diagnostic testing programs for CLCN6-related Neurodevelopmental Syndrome

CLCN6-related neurodevelopmental syndrome is a rare genetic condition caused by variants in the CLCN6 gene, leading to developmental delay, intellectual disability, seizures, and variable neurologic features. Some individuals may also have movement abnormalities or behavioral symptoms. Genetic testing confirms the diagnosis and supports management and family counseling.

1 program found for CLCN6-related Neurodevelopmental Syndrome

Programs

1 program
Invitae Unlock™

Invitae Epilepsy Panel

This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.

Neurology